Treacher Collins Syndrome Overview
Learn About Treacher Collins Syndrome
Treacher Collins syndrome is a genetic condition that leads to problems with the structure of the face. Most cases are not passed down through families.
Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome
Changes to one of three genes, TCOF1, POLR1C, or POLR1D, can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.
This condition may vary in severity from generation to generation and from person to person.
Symptoms may include:
- Outer part of the ears are abnormal or almost completely missing
- Hearing loss
- Very small jaw (micrognathia)
- Very large mouth
- Defect in the lower eyelid
- Scalp hair that reaches to the cheeks
- Cleft palate
Hearing loss is treated to ensure better performance in school.
Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.
Children's Surgical Associates Ltd
Scott Bartlett is a Plastic Surgeon in Philadelphia, Pennsylvania. Dr. Bartlett and is rated as an Elite provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Craniosynostosis, Syndactyly, Apert Syndrome, Osteotomy, and Bone Graft.
Jeanne Amiel practices in Paris, France. Amiel and is rated as an Elite expert by MediFind in the treatment of Treacher Collins Syndrome. Her top areas of expertise are Micrognathia, Hirschsprung Disease, Treacher Collins Syndrome, and Acrofacial Dysostosis Rodriguez Type.
Sandrine Marlin practices in Paris, France. Marlin and is rated as an Elite expert by MediFind in the treatment of Treacher Collins Syndrome. Her top areas of expertise are Hearing Loss, Acrofrontofacionasal Dysostosis Syndrome, Treacher Collins Syndrome, Acrofacial Dysostosis Rodriguez Type, and Osteotomy.
More information and support for people with Treacher Collins syndrome and their families can be found at:
- FACES: The National Craniofacial Association -- www.faces-cranio.org/
Children with this syndrome typically grow to become functioning adults of normal intelligence.
Complications may include:
- Feeding difficulty
- Speaking difficulty
- Communication problems
- Vision problems
This condition is most often seen at birth.
Genetic counseling can help families understand the condition and how to care for the person.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Summary: The aim of this study is to evaluate the comparison of therapeutic potential of curcumin preconditioned adipose derived stem cells (ASCs) enrichment fat grafting, naïve ASCs enrichment fat grafting and conventional fat grafting to correct facial contour deformities that cause aesthetic complications in patients.
Published Date: September 18, 2023
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Dhar V. Syndromes with oral manifestations. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 337.
Goldstein JA, Davit AJ, Losee JE. Pediatric plastic surgery. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 23.
National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Treacher-Collins syndrome. rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome. Updated February 2023. Accessed October 17, 2023.
Posnick JC, Tiwana PS, Panchal NH. Treacher Collins syndrome: evaluation and treatment. In: Fonseca RJ, ed. Oral and Maxillofacial Surgery. 3rd ed. St Louis, MO: Elsevier; 2018:chap 40.